Product Details

SNP ID

rs202213143

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:74221671 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCATGGAGTATTACAACTGGGGG[C/T]GGTTCTCGAAGCCCCCAGAAGGTGA

Phenotype

MIM: 605719 MIM: 600404

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LAT2 PubMed Links

Gene Details

Gene

LAT2

Gene Name

linker for activation of T-cells family member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014146.3	757	Missense Mutation	CGG,TGG	R123W	NP_054865.2
NM_032463.2	757	Missense Mutation	CGG,TGG	R123W	NP_115852.1
NM_032464.2	757	Missense Mutation	CGG,TGG	R123W	NP_115853.2
XM_011516558.2	757	Missense Mutation	CGG,TGG	R123W	XP_011514860.1

Gene

RFC2

Gene Name

replication factor C subunit 2

There are no transcripts associated with this gene.

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